MRXST
MCID: MNT058
MIFTS: 37

Mental Retardation, X-Linked, Syndromic, Turner Type (MRXST)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Turner Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Turner Type:

Name: Mental Retardation, X-Linked, Syndromic, Turner Type 58 76 30 6 74
Juberg-Marsidi Syndrome 58 77 54 56
Mental Retardation, X-Linked Syndromic, Turner Type 58 13 41
X-Linked Intellectual Disability, Brooks Type 12 60
Mental Retardation and Macrocephaly Syndrome 58 76
Brooks-Wisniewski-Brown Syndrome 58 12
Mrxst 58 76
Jms 58 54
Intellectual Disability, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 54
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 58
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type; Mrxsbwb 58
Intellectual Disability, X-Linked with Growth Delay, Deafness, Microgenitalism 54
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type 58
X-Linked Intellectual Disability-Hypotonic Facies Syndrome 1 54
X-Linked Hypogonadism Gynecomastia Intellectual Disability 54
Juberg-Marsidi Intellectual Disability Syndrome 54
X-Linked Mental Retardation Brooks Type 54
Brooks Wisniewski Brown Syndrome 54
Juberg-Marsidi Syndrome; Jms 58
Juberg Marsidi Syndrome 54
Mrxs-Turner 76
Mrxsbwb 58

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability, brooks type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Miscellaneous:
onset in infancy
highly variable phenotype
some carrier females are unaffected
some females with de novo mutations are severely affected

Inheritance:
x-linked


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060829
OMIM 58 309590
MeSH 45 D038901
ICD10 34 Q87.8
Orphanet 60 ORPHA3056
MedGen 43 C2678046
UMLS 74 C2678046

Summaries for Mental Retardation, X-Linked, Syndromic, Turner Type

OMIM : 58 Turner-type X-linked syndromic mental retardation (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018). (309590)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Turner Type, also known as juberg-marsidi syndrome, is related to syndromic x-linked intellectual disability turner type and mental retardation smith fineman myers type. An important gene associated with Mental Retardation, X-Linked, Syndromic, Turner Type is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include eye, bone and prostate, and related phenotypes are malar flattening and pectus excavatum

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has material basis in variation on the X chromosome.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3056Disease definitionX-linkedintellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 76 Mental retardation, X-linked, syndromic, Turner type: A syndrome characterized by the association of mental retardation with macrocephaly and variable contractures.

Wikipedia : 77 Smith–Fineman–Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome... more...

Related Diseases for Mental Retardation, X-Linked, Syndromic, Turner Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability turner type 11.7
2 mental retardation smith fineman myers type 11.5
3 johnson neuroectodermal syndrome 11.3
4 mental retardation-hypotonic facies syndrome, x-linked, 1 11.1
5 brown syndrome 10.6
6 alpha-thalassemia 10.4
7 thalassemia 10.4
8 alacrima, achalasia, and mental retardation syndrome 10.3
9 infant gynecomastia 10.3
10 gynecomastia 10.3
11 hypogonadism 10.3
12 hypogonadotropism 10.3
13 prostate cancer 10.3
14 prostate cancer, hereditary, 8 10.3
15 prostate cancer, hereditary, 6 10.3
16 blood group, junior system 10.2
17 hydrocephalus 10.2
18 japanese encephalitis 10.2
19 congenital hydrocephalus 10.1
20 bladder cancer 10.0
21 blood group, kidd system 10.0
22 rheumatoid arthritis 10.0
23 retinitis pigmentosa 10.0
24 blood group--swann system 10.0
25 salla disease 10.0
26 body mass index quantitative trait locus 1 10.0
27 pemphigus foliaceus 10.0
28 blood group--wright antigen 9.9
29 breast cancer 9.9
30 renal cell carcinoma, nonpapillary 9.9
31 ocular dominance 9.9
32 ovarian cancer 9.9
33 retinoblastoma 9.9
34 vesicoureteral reflux 1 9.9
35 disorganization, mouse, homolog of 9.9
36 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.9
37 prostatic hyperplasia, benign 9.9
38 myocardial infarction 9.9
39 malaria 9.9
40 aortic valve disease 2 9.9
41 spinal stenosis 9.9
42 ductal carcinoma in situ 9.9
43 bladder exstrophy-epispadias-cloacal exstrophy complex 9.9
44 von willebrand's disease 9.9
45 cystitis 9.9
46 prostatic adenoma 9.9
47 histiocytoma 9.9
48 fibrous histiocytoma 9.9
49 clear cell renal cell carcinoma 9.9
50 subacute delirium 9.9

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type:



Diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Turner Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Turner Type:

60 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 Frequent (79-30%)
2 pectus excavatum 60 Frequent (79-30%)
3 agenesis of corpus callosum 60 Frequent (79-30%)
4 nystagmus 60 Frequent (79-30%)
5 intellectual disability 60 Very frequent (99-80%)
6 hyperreflexia 60 Frequent (79-30%)
7 failure to thrive 60 Frequent (79-30%)
8 developmental regression 60 Frequent (79-30%)
9 hearing impairment 60 Very frequent (99-80%)
10 depressed nasal bridge 60 Frequent (79-30%)
11 delayed speech and language development 60 Frequent (79-30%)
12 microcephaly 60 Very frequent (99-80%)
13 optic atrophy 60 Frequent (79-30%)
14 short stature 60 Very frequent (99-80%)
15 decreased muscle mass 60 Frequent (79-30%)
16 strabismus 60 Frequent (79-30%)
17 cryptorchidism 60 Frequent (79-30%)
18 growth delay 60 Frequent (79-30%)
19 low posterior hairline 60 Frequent (79-30%)
20 myopia 60 Frequent (79-30%)
21 increased serum lactate 60 Frequent (79-30%)
22 multiple joint contractures 60 Frequent (79-30%)
23 short philtrum 60 Frequent (79-30%)
24 deeply set eye 60 Frequent (79-30%)
25 bulbous nose 60 Frequent (79-30%)
26 thin upper lip vermilion 60 Frequent (79-30%)
27 blepharophimosis 60 Very frequent (99-80%)
28 triangular face 60 Frequent (79-30%)
29 tented upper lip vermilion 60 Frequent (79-30%)
30 tapered finger 60 Frequent (79-30%)
31 generalized hypotonia 60 Frequent (79-30%)
32 hyperactivity 60 Frequent (79-30%)
33 prominent nose 60 Frequent (79-30%)
34 poor coordination 60 Frequent (79-30%)
35 cerebral atrophy 60 Frequent (79-30%)
36 cupped ear 60 Frequent (79-30%)
37 spastic diplegia 60 Frequent (79-30%)
38 almond-shaped palpebral fissure 60 Frequent (79-30%)
39 posteriorly rotated ears 60 Frequent (79-30%)
40 esotropia 60 Frequent (79-30%)
41 small for gestational age 60 Very frequent (99-80%)
42 narrow palpebral fissure 60 Frequent (79-30%)
43 narrow forehead 60 Frequent (79-30%)
44 epicanthus inversus 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
microcephaly

Chest External Features:
pectus excavatum

Head And Neck Eyes:
ptosis
nystagmus
optic atrophy
strabismus
myopia
more
Skeletal Spine:
scoliosis

Growth Height:
short stature

Head And Neck Face:
long philtrum
micrognathia
short philtrum
long face
high forehead
more
Skin Nails Hair Hair:
low posterior hairline
hyperpilosity

Head And Neck Teeth:
oligodontia
malposition of the teeth

Muscle Soft Tissue:
hypotonia
muscle atrophy

Skeletal:
delayed bone age
joint contractures

Growth Weight:
decreased weight for age

Head And Neck Ears:
low-set ears
posteriorly rotated ears
protruding ears
cupped ears
hearing impairment (in some patients)

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
small hands
tapering fingers
more
Neurologic Central Nervous System:
hyperreflexia
global developmental delay
absent speech
poor coordination
cerebral atrophy
more
Head And Neck Nose:
depressed nasal bridge
bulbous nose

Skeletal Skull:
brachycephaly
trigonocephaly
craniosynostosis (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
small penis
undeveloped scrotum

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features

Growth Other:
small for gestational age
generalized severe growth retardation

Head And Neck Mouth:
high-arched palate
small mouth
thin upper lip
large mouth

Skeletal Feet:
overlapping toes
foot deformities
small feet
elongated hallux

Clinical features from OMIM:

309590

GenomeRNAi Phenotypes related to Mental Retardation, X-Linked, Syndromic, Turner Type according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.62 ATRX HUWE1

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Turner Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Turner Type:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Turner Type 30 HUWE1

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Turner Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Turner Type:

42
Eye, Bone, Prostate, Breast

Publications for Mental Retardation, X-Linked, Syndromic, Turner Type

Articles related to Mental Retardation, X-Linked, Syndromic, Turner Type:

# Title Authors Year
1
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. ( 18252223 )
2008
2
XNP mutation in a large family with Juberg-Marsidi syndrome. ( 8630485 )
1996
3
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? ( 7726226 )
1995
4
Juberg-Marsidi syndrome: report of an additional case. ( 8533845 )
1995
5
X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization. ( 7943042 )
1994
6
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). ( 8503439 )
1993

Variations for Mental Retardation, X-Linked, Syndromic, Turner Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Turner Type:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 HUWE1 NM_031407.6(HUWE1): c.12037C> T (p.Arg4013Trp) single nucleotide variant Pathogenic rs121918525 GRCh37 Chromosome X, 53564617: 53564617
2 HUWE1 NM_031407.6(HUWE1): c.12037C> T (p.Arg4013Trp) single nucleotide variant Pathogenic rs121918525 GRCh38 Chromosome X, 53537656: 53537656
3 HUWE1 NM_031407.4(HUWE1): c.8942G> A (p.Arg2981His) single nucleotide variant Likely pathogenic rs121918526 GRCh37 Chromosome X, 53578381: 53578381
4 HUWE1 NM_031407.4(HUWE1): c.8942G> A (p.Arg2981His) single nucleotide variant Likely pathogenic rs121918526 GRCh38 Chromosome X, 53551420: 53551420
5 HUWE1 NM_031407.6(HUWE1): c.12559C> T (p.Arg4187Cys) single nucleotide variant Likely pathogenic rs121918527 GRCh37 Chromosome X, 53562435: 53562435
6 HUWE1 NM_031407.6(HUWE1): c.12559C> T (p.Arg4187Cys) single nucleotide variant Likely pathogenic rs121918527 GRCh38 Chromosome X, 53535474: 53535474
7 HUWE1 NM_031407.6(HUWE1): c.4013C> T (p.Ala1338Val) single nucleotide variant Likely pathogenic rs863224879 GRCh38 Chromosome X, 53591082: 53591082
8 HUWE1 NM_031407.6(HUWE1): c.4013C> T (p.Ala1338Val) single nucleotide variant Likely pathogenic rs863224879 GRCh37 Chromosome X, 53618042: 53618042
9 HUWE1 NM_031407.6(HUWE1): c.11701C> T (p.Arg3901Ter) single nucleotide variant Uncertain significance rs1085307073 GRCh37 Chromosome X, 53565973: 53565973
10 HUWE1 NM_031407.6(HUWE1): c.11701C> T (p.Arg3901Ter) single nucleotide variant Uncertain significance rs1085307073 GRCh38 Chromosome X, 53539012: 53539012
11 HUWE1 NM_031407.6(HUWE1): c.9208C> T (p.Arg3070Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886041876 GRCh37 Chromosome X, 53578039: 53578039
12 HUWE1 NM_031407.6(HUWE1): c.9208C> T (p.Arg3070Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886041876 GRCh38 Chromosome X, 53551078: 53551078
13 HUWE1 NM_031407.6(HUWE1): c.3239G> A (p.Arg1080His) single nucleotide variant Likely pathogenic rs1057518704 GRCh37 Chromosome X, 53622288: 53622288
14 HUWE1 NM_031407.6(HUWE1): c.3239G> A (p.Arg1080His) single nucleotide variant Likely pathogenic rs1057518704 GRCh38 Chromosome X, 53595328: 53595328
15 HUWE1 NM_031407.6(HUWE1): c.12928G> C (p.Gly4310Arg) single nucleotide variant Pathogenic rs1556909287 GRCh38 Chromosome X, 53534101: 53534101
16 HUWE1 NM_031407.6(HUWE1): c.12928G> C (p.Gly4310Arg) single nucleotide variant Pathogenic rs1556909287 GRCh37 Chromosome X, 53561062: 53561062
17 HUWE1 NM_031407.6(HUWE1): c.12885G> C (p.Lys4295Asn) single nucleotide variant Likely pathogenic rs1325394060 GRCh37 Chromosome X, 53561105: 53561105
18 HUWE1 NM_031407.6(HUWE1): c.12885G> C (p.Lys4295Asn) single nucleotide variant Likely pathogenic rs1325394060 GRCh38 Chromosome X, 53534144: 53534144
19 HUWE1 NM_031407.6(HUWE1): c.12732G> C (p.Glu4244Asp) single nucleotide variant Likely pathogenic rs1556910184 GRCh37 Chromosome X, 53561576: 53561576
20 HUWE1 NM_031407.6(HUWE1): c.12732G> C (p.Glu4244Asp) single nucleotide variant Likely pathogenic rs1556910184 GRCh38 Chromosome X, 53534615: 53534615
21 HUWE1 NM_031407.6(HUWE1): c.12469C> G (p.Leu4157Val) single nucleotide variant Likely pathogenic rs1556912828 GRCh37 Chromosome X, 53563170: 53563170
22 HUWE1 NM_031407.6(HUWE1): c.12469C> G (p.Leu4157Val) single nucleotide variant Likely pathogenic rs1556912828 GRCh38 Chromosome X, 53536209: 53536209
23 HUWE1 NM_031407.6(HUWE1): c.12317A> G (p.Tyr4106Cys) single nucleotide variant Likely pathogenic rs1556913180 GRCh37 Chromosome X, 53563449: 53563449
24 HUWE1 NM_031407.6(HUWE1): c.12317A> G (p.Tyr4106Cys) single nucleotide variant Likely pathogenic rs1556913180 GRCh38 Chromosome X, 53536488: 53536488
25 HUWE1 NM_031407.6(HUWE1): c.12225C> G (p.Asn4075Lys) single nucleotide variant Likely pathogenic rs1556913258 GRCh38 Chromosome X, 53536580: 53536580
26 HUWE1 NM_031407.6(HUWE1): c.12225C> G (p.Asn4075Lys) single nucleotide variant Likely pathogenic rs1556913258 GRCh37 Chromosome X, 53563541: 53563541
27 HUWE1 NM_031407.6(HUWE1): c.12205A> T (p.Ile4069Phe) single nucleotide variant Likely pathogenic rs1556913268 GRCh37 Chromosome X, 53563561: 53563561
28 HUWE1 NM_031407.6(HUWE1): c.12205A> T (p.Ile4069Phe) single nucleotide variant Likely pathogenic rs1556913268 GRCh38 Chromosome X, 53536600: 53536600
29 HUWE1 NM_031407.6(HUWE1): c.12067C> T (p.Arg4023Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1556914274 GRCh37 Chromosome X, 53564587: 53564587
30 HUWE1 NM_031407.6(HUWE1): c.12067C> T (p.Arg4023Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1556914274 GRCh38 Chromosome X, 53537626: 53537626
31 HUWE1 NM_031407.6(HUWE1): c.9581T> C (p.Phe3194Ser) single nucleotide variant Likely pathogenic rs782393002 GRCh37 Chromosome X, 53576374: 53576374
32 HUWE1 NM_031407.6(HUWE1): c.9581T> C (p.Phe3194Ser) single nucleotide variant Likely pathogenic rs782393002 GRCh38 Chromosome X, 53549413: 53549413
33 HUWE1 NM_031407.6(HUWE1): c.6267T> G (p.Ile2089Met) single nucleotide variant Likely pathogenic rs1556955128 GRCh37 Chromosome X, 53600755: 53600755
34 HUWE1 NM_031407.6(HUWE1): c.6267T> G (p.Ile2089Met) single nucleotide variant Likely pathogenic rs1556955128 GRCh38 Chromosome X, 53573795: 53573795
35 HUWE1 NM_031407.6(HUWE1): c.4942A> T (p.Ser1648Cys) single nucleotide variant Benign rs201226547 GRCh37 Chromosome X, 53612031: 53612031
36 HUWE1 NM_031407.6(HUWE1): c.4942A> T (p.Ser1648Cys) single nucleotide variant Benign rs201226547 GRCh38 Chromosome X, 53585071: 53585071
37 HUWE1 NM_031407.6(HUWE1): c.3982A> G (p.Met1328Val) single nucleotide variant Likely pathogenic rs1556978515 GRCh38 Chromosome X, 53591113: 53591113
38 HUWE1 NM_031407.6(HUWE1): c.3982A> G (p.Met1328Val) single nucleotide variant Likely pathogenic rs1556978515 GRCh37 Chromosome X, 53618073: 53618073
39 HUWE1 NM_031407.6(HUWE1): c.2007T> G (p.His669Gln) single nucleotide variant Likely pathogenic rs1557006873 GRCh38 Chromosome X, 53615786: 53615786
40 HUWE1 NM_031407.6(HUWE1): c.2007T> G (p.His669Gln) single nucleotide variant Likely pathogenic rs1557006873 GRCh37 Chromosome X, 53642747: 53642747
41 HUWE1 NM_031407.6(HUWE1): c.1978G> A (p.Gly660Arg) single nucleotide variant Likely pathogenic rs1557006903 GRCh37 Chromosome X, 53642776: 53642776
42 HUWE1 NM_031407.6(HUWE1): c.1978G> A (p.Gly660Arg) single nucleotide variant Likely pathogenic rs1557006903 GRCh38 Chromosome X, 53615815: 53615815
43 HUWE1 NM_031407.6(HUWE1): c.567+1G> C single nucleotide variant Pathogenic rs1557024919 GRCh38 Chromosome X, 53634235: 53634235
44 HUWE1 NM_031407.6(HUWE1): c.567+1G> C single nucleotide variant Pathogenic rs1557024919 GRCh37 Chromosome X, 53661187: 53661187
45 HUWE1 NM_031407.6(HUWE1): c.344C> T (p.Ser115Phe) single nucleotide variant Likely pathogenic rs1557036757 GRCh37 Chromosome X, 53674318: 53674318
46 HUWE1 NM_031407.6(HUWE1): c.344C> T (p.Ser115Phe) single nucleotide variant Likely pathogenic rs1557036757 GRCh38 Chromosome X, 53647375: 53647375
47 HUWE1 NM_031407.7(HUWE1): c.329G> A (p.Arg110Gln) single nucleotide variant Pathogenic rs1557036768 GRCh37 Chromosome X, 53674333: 53674333
48 HUWE1 NM_031407.7(HUWE1): c.329G> A (p.Arg110Gln) single nucleotide variant Pathogenic rs1557036768 GRCh38 Chromosome X, 53647390: 53647390
49 HUWE1 NM_031407.6(HUWE1): c.328C> T (p.Arg110Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520538 GRCh37 Chromosome X, 53674334: 53674334
50 HUWE1 NM_031407.6(HUWE1): c.328C> T (p.Arg110Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520538 GRCh38 Chromosome X, 53647391: 53647391

Expression for Mental Retardation, X-Linked, Syndromic, Turner Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Turner Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Turner Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Turner Type

Biological processes related to Mental Retardation, X-Linked, Syndromic, Turner Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 8.96 ATRX HUWE1
2 DNA repair GO:0006281 8.62 ATRX HUWE1

Sources for Mental Retardation, X-Linked, Syndromic, Turner Type

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